Prenatal diagnosis of fragile x syndrome: (cgg)n expansion and methylation of chorionic villus samples

Fragile X syndrome is the most common form of inherited mental retardation, due to an expansion of the (CGG)_n trinucleotide repeat in the FMR-1 gene and hypermethylation of its 5′ upstream CpG island. Two major problems remain to be resolved for fragile X prenatal diagnosis: the abnormal methylation patterns of chorionic villus samples (CVS) and the inability to predict the mental status of females with the full mutation. We present here the results of ten prenatal diagnoses of fragile X syndrome using Southern blotting and polymerase chain reaction (PCR) amplification, and the analysis of 50 further CVS to test the methylation status of the CpG island of the FMR-1 gene. In the ten ‘at-risk’ CVS, eight normal (five males and three females) and two affected male fetuses were detected. Absence of methylation in the CVS was observed in two cases, which was not found upon subsequent examination of the newborn or of fetal tissues. In the 50 CVS not ‘at risk’ for fragile X syndrome, abnormal fragment patterns for probe StB12.3 were detected in 32 per cent for female and 24 per cent for male fetuses. This abnormal pattern could be due to absent or partial methylation of the CpG island of the FMR-1 gene in chorionic villus tissues.     

Elemental composition of surface waters in the Antarctic Peninsula and interactions with the environment

The fast changes in chemical and biological properties of many coastal and inland waters in the last decades reflect the pressure of man on the environment. The surface waters of the Antarctic Peninsula, located far from industrial or populated areas, could eventually be used as background lines. Surface water samples were taken from five lagoons of King George Island, Antarctic Peninsula, and from the Kitiesh Lake. Sample pH and electrical conductivity were analysed in situ and in the laboratory, respectively. The dissolved fractions were analysed in 1997 and 1998. Total concentrations only for 1998 were determined in another fraction adjusted to pH 2. Aluminium, Ca, Cr, Mn, Co, Ni, Cu, Zn, As, Se, Sr, Cd, Sn, Sb, Ba, Bi, and Pb were quantified in all samples by means of inductively coupled plasma-mass spectrometry (ICP-MS). Total and dissolved elemental concentrations were discussed considering the composition of particulate material suspended in the waters removed by streams or by water runoff, or from atmospheric aerosols. Concentrations of dissolved elements change from one lagoon to another. Total and dissolved elemental concentrations could be related to water movement by windstorms, to chemical mechanisms in water and/or to natural and anthropogenic atmospheric factors.